Canonical Allele Identifier: CA1075099843

Gene: NIPBL

Linked Data

• gnomAD v3: 5-36957983-C-CAA
• gnomAD v4: 5-36957983-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.36958000_36958001dup , CM000667.2:g.36958000_36958001dup	GRCh38
NC_000005.9:g.36958102_36958103dup , CM000667.1:g.36958102_36958103dup	GRCh37
NC_000005.8:g.36993859_36993860dup	NCBI36
NG_006987.1:g.86118_86119dup
NG_006987.2:g.86118_86119dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000282516.13:c.231-104_231-103dup MANE Select	ENSP00000282516.8:n.231-104_231-103dup
ENST00000652901.1:c.231-104_231-103dup	ENSP00000499536.1:n.231-104_231-103dup
ENST00000282516.12:c.231-104_231-103dup	ENSP00000282516.8:n.231-104_231-103dup
ENST00000448238.2:c.231-104_231-103dup	ENSP00000406266.2:n.231-104_231-103dup
ENST00000505998.5:n.210-104_210-103dup
ENST00000621733.1:c.-1+80978_-1+80979dup	ENSP00000480694.1:n.-1+80978_-1+80979dup
NM_015384.4:c.231-104_231-103dup	NP_056199.2:n.231-104_231-103dup
NM_133433.3:c.231-104_231-103dup	NP_597677.2:n.231-104_231-103dup
XM_005248280.2:c.231-104_231-103dup	XP_005248337.1:n.231-104_231-103dup
XM_006714467.2:c.231-104_231-103dup	XP_006714530.1:n.231-104_231-103dup
XM_006714468.1:c.231-104_231-103dup	XP_006714531.1:n.231-104_231-103dup
XM_011514014.1:c.231-104_231-103dup	XP_011512316.1:n.231-104_231-103dup
XM_011514015.1:c.231-104_231-103dup	XP_011512317.1:n.231-104_231-103dup
XM_005248280.3:c.231-104_231-103dup	XP_005248337.1:n.231-104_231-103dup
XM_006714468.2:c.231-104_231-103dup	XP_006714531.1:n.231-104_231-103dup
XM_017009329.1:c.231-104_231-103dup	XP_016864818.1:n.231-104_231-103dup
XM_017009331.1:c.231-104_231-103dup	XP_016864820.1:n.231-104_231-103dup
NM_133433.4:c.231-104_231-103dup MANE Select	NP_597677.2:n.231-104_231-103dup
NM_015384.5:c.231-104_231-103dup	NP_056199.2:n.231-104_231-103dup